Abstract | BACKGROUND: METHODS: RESULT: CONCLUSION: In this report we present a previously unreported homozygous nonsense mutation present in a consanguineous Moroccan congenital insensitivity to pain patient with anosmia. The identification of this mutation extends the spectrum of mutations affecting the Nav1.7 channel, and it confirms earlier studies that established Nav1.7 roles in nociception and the sense of smell.
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Authors | Maria Mansouri, Siham Chafai Elalaoui, Bouchra Ouled Amar Bencheikh, Mohamed El Alloussi, Patrick A Dion, Abdelaziz Sefiani, Guy A Rouleau |
Journal | Pediatric neurology
(Pediatr Neurol)
Vol. 51
Issue 5
Pg. 741-4
(Nov 2014)
ISSN: 1873-5150 [Electronic] United States |
PMID | 25439579
(Publication Type: Case Reports, Journal Article)
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Copyright | Copyright © 2014 Elsevier Inc. All rights reserved. |
Chemical References |
- Codon, Nonsense
- NAV1.7 Voltage-Gated Sodium Channel
- SCN9A protein, human
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Topics |
- Child, Preschool
- Codon, Nonsense
(genetics)
- Consanguinity
- DNA Mutational Analysis
- Female
- Humans
- Morocco
- NAV1.7 Voltage-Gated Sodium Channel
(genetics)
- Pain Insensitivity, Congenital
(genetics)
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